{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825341462",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 506,
          "referenceAllele": "P",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000470",
      "geneNCBI_id": 272,
      "geneSymbol": "AMPD3",
      "hgvs": [
        "NP_001020561.1:p.Pro506Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379648632",
          "hgvs": "NM_001025390.2:c.1517C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149362"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=866914[alleleid]",
        "alleleId": 866914,
        "preferredName": "NM_001025389.2(AMPD3):c.1496C>T (p.Pro499Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/878486",
        "RCV": [
          "RCV001105109"
        ],
        "variationId": 878486
      }
    ]
  },
  "type": "amino-acid"
}